Abstract |
DNA markers YNZ22.1, YNH37.3, 144D6 and VAW508 were studied in a patient with the isolated lissencephaly sequence (ILS). A normal karyotype was found in the patient. The DNA of the patient showed deletions of markers YNZ22.1 and YNH37.3. This is the first report of a case of ILS (with grade 3 lissencephaly) with a submicroscopic deletion. The presence of a microdeletion in 17p13 in an ILS patient indicates that Miller-Dieker syndrome and ILS have a common etiology.
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Authors | J F De Rijk-van Andel, C E Catsman-Berrevoets, D J Halley, E Wesby-van Swaay, M F Niermeijer, B A Oostra |
Journal | Human genetics
(Hum Genet)
Vol. 87
Issue 4
Pg. 509-10
(Aug 1991)
ISSN: 0340-6717 [Print] Germany |
PMID | 1879837
(Publication Type: Case Reports, Journal Article)
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Chemical References |
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Topics |
- Blotting, Southern
- Brain
(abnormalities)
- Chromosome Deletion
- Chromosome Mapping
- Chromosomes, Human, Pair 17
- DNA
(genetics)
- Female
- Humans
- Infant, Newborn
- Nucleic Acid Hybridization
- Pedigree
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